Table 1 Pathogenic and likely pathogenic variants (CNVs, aneuploidies and SNVs) identified in different cardiostvascular malformations by overall clinical findings (Baby Phenotype) and complexity of cardiac phenotype based on the Botto classification.
Baby phenotype | Cardiac complexity | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simple | Association | Complex | ||||||||||||||
No. Cases (%) | Age of onset (mean age) | Diagnostic yield (%) | Diagnostic yield of CMA | Diagnostic yield of WES | No. Cases (%) | Detection rate (%) | No. CNVs & aneuploidies | No. SNVs | No. Cases (%) | Detection rate (%) | No. CNVs & aneuploidies | No. SNVs | No. Cases (%) | Detection rate (%) | No.CNVs & aneuploidies | No. SNVs | |
Isolated | 75(74.3) | 1d-9y (9.5 m) | 13 (17.3) | 8 (10.7) | 5(6.7) | 56 (55.4) | 9 (16.1) | 6 | 3 | 16 (15.8) | 4 (25.0) | 2 | 2 | 3(3.0) | 0 | 0 | 0 |
Non-isolated | 26(25.7) | 11d-3y (8.5 m) | 16 (61.5) | 13 (50.0) | 3(11.5) | 11 (10.9) | 7 (63.6) | 6 | 1 | 14 (13.9) | 9 (64.3) | 7 | 2 | 1(1.0) | 1(100.0) | 1 | 0 |
Total | 101 (100.0) | 1d-9y (9 m) | 29 (28.7) | 21 (20.8) | 8 (7.9) | 67 (66.3) | 16 (23.9) | 12 | 4 | 30 (29.7) | 13 (43.3) | 9 | 4 | 4(4.0) | 1(25.0) | 1 | 0 |
